Definitions

• ABSMC:
  Alta Bates Summit Medical Center, 2450 Ashby Avenue Berkeley, CA 94705
• Amniocentesis:
  An ultrasound-guided procedure during which a needle is inserted transabdominally into the uterus and a small sample of amniotic fluid is obtained and tested for a variety of disorders, most commonly chromosomal abnormalities (such as Down syndrome).
  
• Chorionic Villus Sampling (CVS):
  An ultrasound-guided procedure during which a needle is inserted transabdominally into the uterus and a small sample of amniotic fluid is obtained and tested for a variety of disorders, most commonly chromosomal abnormalities (such as Down syndrome).
• Chromosomal Abnormalities:
  The chromosomes are structures in our cells that store the genetic information that we inherit from our parents. Chromosomal abnormalities are changes in the typical number or in the structure of the chromosomes themselves.
• Co-management:
  Our physicians will work with your OB provider to provide the best care and expertise to handle any problems that have been identified with your pregnancy.
  
• Down Syndrome:
  The most common chromosomal condition in humans at birth, which occurs when there are three copies of chromosome 21 instead of the typical two copies per cell. People with Down syndrome have a higher chance of having heart defects, intestinal abnormalities, and growth disorders. Down syndrome also causes some degree of intellectual disability. There are a variety of non-invasive blood and ultrasound tests that can screen for the condition. If patients are interested in a prenatal diagnosis, CVS or amniocentesis can provide a definitive answer regarding whether their baby has a chromosome condition.
• Fetal Nuchal Translucency:
  An ultrasound measurement at the back of the fetal neck which can assess the risk of the fetus having a chromosomal abnormality or structural heart condition. This ultrasound can also identify certain anomalies in the baby’s head or limbs.
  
• Generalist Obstetrical Physician:
  A residency-trained obstetrician and gynecologist, an expert in diseases specific to women throughout the lifespan.
• Genetic Counseling:
  An approximately one-hour appointment with a genetic counselor to discuss family history, prenatal diagnostic choices, and individual risks of genetic problems. We encourage you to bring a family member to these sessions.
• Genetic Counselor:
  A health professional with a specialized graduate degree and experience in the areas of medical genetics and counseling. They provide information and support to families who may be at risk for a variety of inherited or chromosomal conditions. Certified by the American Board of Genetic Counseling or the American Board of Medical Genetics.
• Genetic Testing:
  Testing performed on a patient or fetus to determine if there is a specific genetic risk or abnormality. These tests help to diagnose genetically transmitted diseases and enable the patient, working alongside the genetic counselor, to understand the risk of disease in themselves and their children.
• Geneticist:
  A physician specially trained in the detection of genetically inherited diseases such as cystic fibrosis, sickle cell disease and chromosomal abnormalities. They are available for consultation with parents at risk for these and other diseases.
• Gestational:
  Related to pregnancy, i.e., gestational age (age of pregnancy) and gestational diabetes (diabetes related to pregnancy)
• High-Risk Obstetrical:
  Obstetric or medical issues during pregnancy that increase the risk of adverse outcomes, including pregnancy complications (preterm labor, preeclampsia, rupture of the membranes) and medical complications that can affect the pregnancy (diabetes, hypertension, lupus).
  
• Maternal-Fetal Medicine:
  The medical specialty devoted to the care of the pregnant patient with high-risk complications such as medical problems (diabetes, high blood pressure, autoimmune diseases such as lupus), pregnancy-related problems (preterm labor, premature rupture of membranes, preeclampsia), and also devoted to expertise in prenatal diagnosis by ultrasound and genetic testing.
• Maternal-Fetal Medicine Specialist:
  A physician devoted to the care of the pregnant patient with high-risk complications such as medical problems (diabetes, high blood pressure, autoimmune diseases such as lupus), pregnancy-related problems (preterm labor, premature rupture of membranes, preeclampsia), and also devoted to expertise in prenatal diagnosis by ultrasound and genetic testing.
• Multidisciplinary:
  The use of specialists from multiple fields to approach high-risk pregnancy problems, i.e., a maternal-fetal medicine specialist to assist in managing diabetes and its complications in conjunction with the patients physician or a kidney specialist (nephrologist) to assist in managing kidney failure.
• Neural Tube:
  A tube formed by the closure of tissue in the early stages of fetal development, which later develops into the brain, spinal cord, nerves, and ganglia.
• Nuchal Translucency:
  An ultrasound measurement at the back of the fetal neck which can assess the risk of the fetus having a chromosomal abnormality or structural heart condition. This ultrasound can also identify certain anomalies in the baby’s head or limbs.
• Obstetrician:
  A physician who specializes in obstetrics, the branch of medical science concerned with childbirth and caring for and treating women in or in connection with childbirth.
• Open Neural Tube Defect:
  A defect resulting from failure of the neural tube to close, such as spina bifida and other spinal cord or intracranial abnormalities.
  
• Perinatal:
  Having to do with pregnancy and the birth process.
• Perinatal OB:
  A physician who specializes in obstetrics, with an emphasis on the management of labor and delivery.
• Perinatologist:
  A physician devoted to the care of the pregnant patient with high-risk complications such as medical problems (diabetes, high blood pressure, autoimmune diseases such as lupus), pregnancy-related problems (preterm labor, premature rupture of membranes, preeclampsia), and also devoted to expertise in prenatal diagnosis by ultrasound and genetic testing.
• Perinatology:
  The medical specialty devoted to the care of the pregnant patient with high-risk complications such as medical problems (diabetes, high blood pressure, autoimmune diseases such as lupus), pregnancy-related problems (preterm labor, premature rupture of membranes, preeclampsia), and also devoted to expertise in prenatal diagnosis by ultrasound and genetic testing.
• Preconception:
  Having to do with the time period before conception.
• Pregestational:
  Before pregnancy.
• Prenatal:
  Before birth, during pregnancy.
• Prenatal Diagnosis:
  Any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality.
• Prenatal Diagnosis Center (PDC):
  A designation for an ultrasound center that has been certified by the State of California as having the physicians, sonographers, and genetic counselors with expertise in performing prenatal diagnostic procedures such as a fetal anatomic ultrasound, invasive procedures such as amniocentesis and chorionic villus sampling (CVS), and in providing genetic counseling for patients at risk for genetic syndromes.
  
• Screen Positive:
  A patient who, following screening tests, has an increased risk of their child being impacted with a disease. Positive screening tests are indications for advancing to diagnostic testing such as amniocentesis or CVS, if a patient wants to know for certain whether their fetus is affected.
  
• Sonographer:
  A certified special program-trained technician who performs ultrasound examinations.
• Sweet Success Diabetes in Pregnancy Program:
  A state-certified program that provides a multidisciplinary approach to managing a pregnant diabetic, including diet control, medication management, and education of the patient regarding the complications and nutritional management of this disorder.
  
• Transabdominally:
  Approaching through the abdomen, as with an ultrasound transducer, or amniocentesis or CVS needle.
• Transducer:
  The probe that the ultrasonographer utilizes to allow imaging of the maternal and fetal structures through the abdominal wall or vagina.
• Transvaginally:
  Approaching through the vagina or cervix, as with an ultrasound transducer or CVS catheter.
• Trisomy 13:
  A chromosomal abnormality caused by an extra chromosome number 13. Also known as Patau Syndrome. The extra chromosome 13 material causes structural changes in the brain, organs, and limbs, which result in severe disease across several body systems.
  
• Trisomy 18:
  A chromosomal abnormality caused by an extra chromosome number 18. Also known as Edwards Syndrome. The extra chromosome 18 material causes structural changes in the brain, organs, and limbs, which result in severe disease across several body systems.
• Ultrasonographer:
  A certified special program-trained technician who performs ultrasound examinations.
• Ultrasound:
  The technology that utilizes sound waves above the audible spectrum to visualize structures within the mother and fetus. It is generally accepted that the methodology utilized by todays modern machines in procedures recommended by the American Institute of Ultrasound in Medicine carry no significant risk to the fetus or mother.
• URAD:
  Ultrasound Risk Assessment for Down Syndrome a scoring system that utilizes an ultrasound of the fetus at 16-22 weeks to assist in determining the risk of the fetus carrying the Down syndrome chromosomal abnormality. It utilizes the presence of soft markers, findings that are not anomalies but whose presence at the time of the ultrasound examination may suggest and increased risk of Down syndrome (Trisomy 21).